Overview

Dataset statistics

Number of variables46
Number of observations65188
Missing cells898429
Missing cells (%)30.0%
Duplicate rows0
Duplicate rows (%)0.0%
Total size in memory127.0 MiB
Average record size in memory2.0 KiB

Variable types

CAT33
NUM10
BOOL2
UNSUPPORTED1

Reproduction

Analysis started2020-04-30 09:59:39.439110
Analysis finished2020-04-30 10:05:50.793552
Versionpandas-profiling v2.5.0
Command linepandas_profiling --config_file config.yaml [YOUR_FILE.csv]
Download configurationconfig.yaml
REF has a high cardinality: 866 distinct values High cardinality
ALT has a high cardinality: 458 distinct values High cardinality
CLNDISDB has a high cardinality: 9234 distinct values High cardinality
CLNDISDBINCL has a high cardinality: 93 distinct values High cardinality
CLNDN has a high cardinality: 9260 distinct values High cardinality
CLNDNINCL has a high cardinality: 101 distinct values High cardinality
CLNHGVS has a high cardinality: 65188 distinct values High cardinality
CLNSIGINCL has a high cardinality: 137 distinct values High cardinality
CLNVI has a high cardinality: 27654 distinct values High cardinality
MC has a high cardinality: 90 distinct values High cardinality
Allele has a high cardinality: 374 distinct values High cardinality
SYMBOL has a high cardinality: 2328 distinct values High cardinality
Feature has a high cardinality: 2369 distinct values High cardinality
EXON has a high cardinality: 3264 distinct values High cardinality
INTRON has a high cardinality: 1929 distinct values High cardinality
cDNA_position has a high cardinality: 13970 distinct values High cardinality
CDS_position has a high cardinality: 13663 distinct values High cardinality
Protein_position has a high cardinality: 7339 distinct values High cardinality
Amino_acids has a high cardinality: 1262 distinct values High cardinality
Codons has a high cardinality: 2220 distinct values High cardinality
MOTIF_SCORE_CHANGE is highly correlated with POS and 3 other fieldsHigh Correlation
POS is highly correlated with MOTIF_SCORE_CHANGEHigh Correlation
STRAND is highly correlated with MOTIF_SCORE_CHANGEHigh Correlation
CADD_PHRED is highly correlated with MOTIF_SCORE_CHANGE and 1 other fieldsHigh Correlation
CADD_RAW is highly correlated with MOTIF_SCORE_CHANGE and 1 other fieldsHigh Correlation
CLNDISDBINCL has 65021 (99.7%) missing values Missing
CLNDNINCL has 65021 (99.7%) missing values Missing
CLNSIGINCL has 65021 (99.7%) missing values Missing
CLNVI has 37529 (57.6%) missing values Missing
MC has 846 (1.3%) missing values Missing
SSR has 65058 (99.8%) missing values Missing
EXON has 8893 (13.6%) missing values Missing
INTRON has 56385 (86.5%) missing values Missing
cDNA_position has 8884 (13.6%) missing values Missing
CDS_position has 9955 (15.3%) missing values Missing
Protein_position has 9955 (15.3%) missing values Missing
Amino_acids has 10004 (15.3%) missing values Missing
Codons has 10004 (15.3%) missing values Missing
DISTANCE has 65080 (99.8%) missing values Missing
BAM_EDIT has 33219 (51.0%) missing values Missing
SIFT has 40352 (61.9%) missing values Missing
PolyPhen has 40392 (62.0%) missing values Missing
MOTIF_NAME has 65186 (> 99.9%) missing values Missing
MOTIF_POS has 65186 (> 99.9%) missing values Missing
HIGH_INF_POS has 65186 (> 99.9%) missing values Missing
MOTIF_SCORE_CHANGE has 65186 (> 99.9%) missing values Missing
LoFtool has 4213 (6.5%) missing values Missing
CADD_PHRED has 1092 (1.7%) missing values Missing
CADD_RAW has 1092 (1.7%) missing values Missing
BLOSUM62 has 39595 (60.7%) missing values Missing
ORIGIN is highly skewed (γ1 = 68.58619745) Skewed
CHROM is an unsupported type, check if it needs cleaning or further analysis Rejected
AF_ESP has 35781 (54.9%) zeros Zeros
AF_EXAC has 24047 (36.9%) zeros Zeros
AF_TGP has 37972 (58.2%) zeros Zeros

Variables

CHROM
Unsupported

REJECTED
UNSUPPORTED
Missing0
Missing (%)0.0%
Memory size509.4 KiB

POS
Real number (ℝ≥0)

HIGH CORRELATION
Distinct count63115
Unique (%)96.8%
Missing0
Missing (%)0.0%
Infinite0
Infinite (%)0.0%
Mean77575938.96
Minimum961
Maximum247607973
Zeros0
Zeros (%)0.0%
Memory size509.4 KiB

Quantile statistics

Minimum961
5-th percentile4876674.45
Q132541793
median57970213
Q3112745411.2
95-th percentile187122313.8
Maximum247607973
Range247607012
Interquartile range (IQR)80203618.25

Descriptive statistics

Standard deviation59740509.88
Coefficient of variation (CV)0.7700907096
Kurtosis-0.1906181669
Mean77575938.96
Median Absolute Deviation (MAD)50014175.48
Skewness0.8029306643
Sum5.057020309e+12
Variance3.568928521e+15
Histogram with fixed size bins (bins=10)
Histogram with variable size bins (bins=[9.61000000e+02 1.57170000e+04 2.18465000e+05 2.18490500e+05 2.23595500e+05 ... 2.47582272e+08 2.47582350e+08 2.47587376e+08 2.47588864e+08 2.47607973e+08], "bayesian blocks" binning strategy used)
ValueCountFrequency (%) 
89876827 11 < 0.1%
 
179578108 9 < 0.1%
 
73613031 8 < 0.1%
 
92944314 7 < 0.1%
 
103629803 7 < 0.1%
 
17697093 6 < 0.1%
 
51175655 6 < 0.1%
 
25031776 6 < 0.1%
 
11097199 5 < 0.1%
 
98270646 5 < 0.1%
 
Other values (63105) 65118 99.9%
 
ValueCountFrequency (%) 
961 1 < 0.1%
 
1291 1 < 0.1%
 
1393 1 < 0.1%
 
1462 1 < 0.1%
 
3243 1 < 0.1%
 
ValueCountFrequency (%) 
247607973 1 < 0.1%
 
247607371 1 < 0.1%
 
247592912 1 < 0.1%
 
247588869 1 < 0.1%
 
247588858 1 < 0.1%
 

REF
Categorical

HIGH CARDINALITY
Distinct count866
Unique (%)1.3%
Missing0
Missing (%)0.0%
Memory size509.4 KiB
C
21798
G
21361
A
9845
T
9421
CT
 
126
Other values (861)
 
2637
ValueCountFrequency (%) 
C 21798 33.4%
 
G 21361 32.8%
 
A 9845 15.1%
 
T 9421 14.5%
 
CT 126 0.2%
 
GC 113 0.2%
 
TG 105 0.2%
 
AG 104 0.2%
 
AC 103 0.2%
 
GA 91 0.1%
 
Other values (856) 2121 3.3%
 

Length

Max length127
Mean length1.174863472
Min length1
ValueCountFrequency (%) 
Uppercase_Letter 4 100.0%
 
ValueCountFrequency (%) 
Latin 4 100.0%
 
ValueCountFrequency (%) 
ASCII 4 100.0%
 

ALT
Categorical

HIGH CARDINALITY
Distinct count458
Unique (%)0.7%
Missing0
Missing (%)0.0%
Memory size509.4 KiB
T
20409
A
20205
G
11782
C
11429
TA
 
118
Other values (453)
 
1245
ValueCountFrequency (%) 
T 20409 31.3%
 
A 20205 31.0%
 
G 11782 18.1%
 
C 11429 17.5%
 
TA 118 0.2%
 
CT 93 0.1%
 
CA 77 0.1%
 
AT 75 0.1%
 
GA 67 0.1%
 
GT 64 0.1%
 
Other values (448) 869 1.3%
 

Length

Max length100
Mean length1.072359944
Min length1
ValueCountFrequency (%) 
Uppercase_Letter 4 100.0%
 
ValueCountFrequency (%) 
Latin 4 100.0%
 
ValueCountFrequency (%) 
ASCII 4 100.0%
 

AF_ESP
Real number (ℝ≥0)

ZEROS
Distinct count2842
Unique (%)4.4%
Missing0
Missing (%)0.0%
Infinite0
Infinite (%)0.0%
Mean0.01451052188
Minimum0
Maximum0.499
Zeros35781
Zeros (%)54.9%
Memory size509.4 KiB

Quantile statistics

Minimum0
5-th percentile0
Q10
median0
Q30.0012
95-th percentile0.075765
Maximum0.499
Range0.499
Interquartile range (IQR)0.0012

Descriptive statistics

Standard deviation0.05779541015
Coefficient of variation (CV)3.983000105
Kurtosis32.06061665
Mean0.01451052188
Median Absolute Deviation (MAD)0.02422527929
Skewness5.465588287
Sum945.9119
Variance0.003340309435
Histogram with fixed size bins (bins=10)
Histogram with variable size bins (bins=[0.0000e+00 5.0000e-05 1.5000e-04 2.5000e-04 3.5000e-04 ... 1.0415e-01 1.7640e-01 2.0745e-01 3.2555e-01 4.9900e-01], "bayesian blocks" binning strategy used)
ValueCountFrequency (%) 
0 35781 54.9%
 
0.0001 3924 6.0%
 
0.0002 3199 4.9%
 
0.0003 1110 1.7%
 
0.0005 994 1.5%
 
0.0004 819 1.3%
 
0.0009 637 1.0%
 
0.0006 523 0.8%
 
0.0007 457 0.7%
 
0.0008 440 0.7%
 
Other values (2832) 17304 26.5%
 
ValueCountFrequency (%) 
0 35781 54.9%
 
0.0001 3924 6.0%
 
0.0002 3199 4.9%
 
0.0003 1110 1.7%
 
0.0004 819 1.3%
 
ValueCountFrequency (%) 
0.499 1 < 0.1%
 
0.4989 1 < 0.1%
 
0.4986 1 < 0.1%
 
0.4985 1 < 0.1%
 
0.4979 1 < 0.1%
 

AF_EXAC
Real number (ℝ≥0)

ZEROS
Distinct count6667
Unique (%)10.2%
Missing0
Missing (%)0.0%
Infinite0
Infinite (%)0.0%
Mean0.0144921754
Minimum0
Maximum0.49989
Zeros24047
Zeros (%)36.9%
Memory size509.4 KiB

Quantile statistics

Minimum0
5-th percentile0
Q10
median4e-05
Q30.00123
95-th percentile0.0768395
Maximum0.49989
Range0.49989
Interquartile range (IQR)0.00123

Descriptive statistics

Standard deviation0.05954209632
Coefficient of variation (CV)4.108568568
Kurtosis31.33022126
Mean0.0144921754
Median Absolute Deviation (MAD)0.02460664223
Skewness5.434358612
Sum944.71593
Variance0.003545261235
Histogram with fixed size bins (bins=10)
Histogram with variable size bins (bins=[0.00000e+00 5.00000e-06 1.50000e-05 2.50000e-05 3.50000e-05 ... 1.07935e-01 1.35870e-01 2.13700e-01 4.00425e-01 4.99890e-01], "bayesian blocks" binning strategy used)
ValueCountFrequency (%) 
0 24047 36.9%
 
1e-05 3263 5.0%
 
3e-05 2321 3.6%
 
2e-05 2037 3.1%
 
4e-05 1013 1.6%
 
5e-05 881 1.4%
 
7e-05 841 1.3%
 
6e-05 665 1.0%
 
8e-05 663 1.0%
 
0.00012 492 0.8%
 
Other values (6657) 28965 44.4%
 
ValueCountFrequency (%) 
0 24047 36.9%
 
1e-05 3263 5.0%
 
2e-05 2037 3.1%
 
3e-05 2321 3.6%
 
4e-05 1013 1.6%
 
ValueCountFrequency (%) 
0.49989 1 < 0.1%
 
0.49974 1 < 0.1%
 
0.49967 1 < 0.1%
 
0.49962 1 < 0.1%
 
0.4996 1 < 0.1%
 

AF_TGP
Real number (ℝ≥0)

ZEROS
Distinct count2087
Unique (%)3.2%
Missing0
Missing (%)0.0%
Infinite0
Infinite (%)0.0%
Mean0.01526349635
Minimum0
Maximum0.4998
Zeros37972
Zeros (%)58.2%
Memory size509.4 KiB

Quantile statistics

Minimum0
5-th percentile0
Q10
median0
Q30.0016
95-th percentile0.0837
Maximum0.4998
Range0.4998
Interquartile range (IQR)0.0016

Descriptive statistics

Standard deviation0.05952740749
Coefficient of variation (CV)3.899985045
Kurtosis30.43211765
Mean0.01526349635
Median Absolute Deviation (MAD)0.02538392379
Skewness5.328800456
Sum994.9968
Variance0.003543512242
Histogram with fixed size bins (bins=10)
Histogram with variable size bins (bins=[0.000e+00 1.000e-04 2.500e-04 3.500e-04 4.500e-04 ... 7.920e-02 1.125e-01 1.644e-01 2.723e-01 4.998e-01], "bayesian blocks" binning strategy used)
ValueCountFrequency (%) 
0 37972 58.2%
 
0.0002 3786 5.8%
 
0.0004 2073 3.2%
 
0.0006 1352 2.1%
 
0.0008 1059 1.6%
 
0.001 872 1.3%
 
0.0012 679 1.0%
 
0.0014 609 0.9%
 
0.0016 584 0.9%
 
0.0018 472 0.7%
 
Other values (2077) 15730 24.1%
 
ValueCountFrequency (%) 
0 37972 58.2%
 
0.0002 3786 5.8%
 
0.0003 129 0.2%
 
0.0004 2073 3.2%
 
0.0005 85 0.1%
 
ValueCountFrequency (%) 
0.4998 1 < 0.1%
 
0.4994 1 < 0.1%
 
0.499 1 < 0.1%
 
0.4984 1 < 0.1%
 
0.4976 1 < 0.1%
 

CLNDISDB
Categorical

HIGH CARDINALITY
Distinct count9234
Unique (%)14.2%
Missing0
Missing (%)0.0%
Memory size509.4 KiB
MedGen:CN169374
 
5344
MedGen:C0027672,SNOMED_CT:699346009|MedGen:CN169374
 
1724
MedGen:CN169374|MedGen:CN517202
 
1398
MedGen:C0027672,SNOMED_CT:699346009
 
1139
MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374
 
913
Other values (9229)
54670
ValueCountFrequency (%) 
MedGen:CN169374 5344 8.2%
 
MedGen:C0027672,SNOMED_CT:699346009|MedGen:CN169374 1724 2.6%
 
MedGen:CN169374|MedGen:CN517202 1398 2.1%
 
MedGen:C0027672,SNOMED_CT:699346009 1139 1.7%
 
MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374 913 1.4%
 
MedGen:C0020445,OMIM:143890,SNOMED_CT:397915002,SNOMED_CT:398036000 732 1.1%
 
MedGen:C0004135,OMIM:208900,Orphanet:ORPHA100,SNOMED_CT:68504005|MedGen:C0027672,SNOMED_CT:699346009 608 0.9%
 
MedGen:C0027672,SNOMED_CT:699346009|MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006 561 0.9%
 
Human_Phenotype_Ontology:HP:0012265,MedGen:C0008780,Orphanet:ORPHA244|MedGen:CN169374 526 0.8%
 
MedGen:C0027672,SNOMED_CT:699346009|MedGen:C0027831,OMIM:162200,Orphanet:ORPHA636,SNOMED_CT:92824003 513 0.8%
 
Other values (9224) 51730 79.4%
 

Length

Max length2417
Mean length87.45106461
Min length15
ValueCountFrequency (%) 
Uppercase_Letter 15 34.1%
 
Lowercase_Letter 14 31.8%
 
Decimal_Number 10 22.7%
 
Other_Punctuation 3 6.8%
 
Connector_Punctuation 1 2.3%
 
Math_Symbol 1 2.3%
 
ValueCountFrequency (%) 
Latin 29 65.9%
 
Common 15 34.1%
 
ValueCountFrequency (%) 
ASCII 44 100.0%
 

CLNDISDBINCL
Categorical

HIGH CARDINALITY
MISSING
Distinct count93
Unique (%)55.7%
Missing65021
Missing (%)99.7%
Memory size509.4 KiB
MedGen:CN169374
 
11
.
 
11
MedGen:C0220754,OMIM:253260,Orphanet:ORPHA79241,SNOMED_CT:8808004
 
8
MeSH:C535804,MedGen:C1855465,OMIM:248200
 
6
MedGen:C0020445,OMIM:143890,SNOMED_CT:397915002,SNOMED_CT:398036000
 
6
Other values (88)
125
ValueCountFrequency (%) 
MedGen:CN169374 11 < 0.1%
 
. 11 < 0.1%
 
MedGen:C0220754,OMIM:253260,Orphanet:ORPHA79241,SNOMED_CT:8808004 8 < 0.1%
 
MeSH:C535804,MedGen:C1855465,OMIM:248200 6 < 0.1%
 
MedGen:C0020445,OMIM:143890,SNOMED_CT:397915002,SNOMED_CT:398036000 6 < 0.1%
 
MedGen:C0031069,OMIM:249100,Orphanet:ORPHA342,SNOMED_CT:12579009 4 < 0.1%
 
MedGen:C0007959,Orphanet:ORPHA166,SNOMED_CT:50548001 4 < 0.1%
 
MedGen:CN029323,OMIM:601144 3 < 0.1%
 
MedGen:C1263858,OMIM:607855,Orphanet:ORPHA258,SNOMED_CT:111503008 3 < 0.1%
 
MedGen:C1850889,OMIM:253601,Orphanet:ORPHA268 3 < 0.1%
 
Other values (83) 108 0.2%
 
(Missing) 65021 99.7%
 

Length

Max length227
Mean length3.126618396
Min length1
ValueCountFrequency (%) 
Lowercase_Letter 14 32.6%
 
Uppercase_Letter 14 32.6%
 
Decimal_Number 10 23.3%
 
Other_Punctuation 3 7.0%
 
Math_Symbol 1 2.3%
 
Connector_Punctuation 1 2.3%
 
ValueCountFrequency (%) 
Latin 28 65.1%
 
Common 15 34.9%
 
ValueCountFrequency (%) 
ASCII 43 100.0%
 

CLNDN
Categorical

HIGH CARDINALITY
Distinct count9260
Unique (%)14.2%
Missing0
Missing (%)0.0%
Memory size509.4 KiB
not_specified
 
5344
Hereditary_cancer-predisposing_syndrome|not_specified
 
1724
not_specified|not_provided
 
1398
Hereditary_cancer-predisposing_syndrome
 
1139
Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified
 
913
Other values (9255)
54670
ValueCountFrequency (%) 
not_specified 5344 8.2%
 
Hereditary_cancer-predisposing_syndrome|not_specified 1724 2.6%
 
not_specified|not_provided 1398 2.1%
 
Hereditary_cancer-predisposing_syndrome 1139 1.7%
 
Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified 913 1.4%
 
Familial_hypercholesterolemia 732 1.1%
 
Ataxia-telangiectasia_syndrome|Hereditary_cancer-predisposing_syndrome 608 0.9%
 
Hereditary_cancer-predisposing_syndrome|Familial_cancer_of_breast 561 0.9%
 
Ciliary_dyskinesia|not_specified 526 0.8%
 
Hereditary_cancer-predisposing_syndrome|Neurofibromatosis,_type_1 513 0.8%
 
Other values (9250) 51730 79.4%
 

Length

Max length996
Mean length70.96818433
Min length9
ValueCountFrequency (%) 
Lowercase_Letter 29 37.2%
 
Uppercase_Letter 26 33.3%
 
Decimal_Number 10 12.8%
 
Other_Punctuation 6 7.7%
 
Math_Symbol 2 2.6%
 
Modifier_Symbol 1 1.3%
 
Open_Punctuation 1 1.3%
 
Close_Punctuation 1 1.3%
 
Dash_Punctuation 1 1.3%
 
Connector_Punctuation 1 1.3%
 
ValueCountFrequency (%) 
Latin 55 70.5%
 
Common 23 29.5%
 
ValueCountFrequency (%) 
ASCII 75 100.0%
 

CLNDNINCL
Categorical

HIGH CARDINALITY
MISSING
Distinct count101
Unique (%)60.5%
Missing65021
Missing (%)99.7%
Memory size509.4 KiB
not_specified
 
11
Biotinidase_deficiency
 
8
Stargardt_disease_1
 
6
Familial_hypercholesterolemia
 
6
Charcot-Marie-Tooth_disease
 
4
Other values (96)
132
ValueCountFrequency (%) 
not_specified 11 < 0.1%
 
Biotinidase_deficiency 8 < 0.1%
 
Stargardt_disease_1 6 < 0.1%
 
Familial_hypercholesterolemia 6 < 0.1%
 
Charcot-Marie-Tooth_disease 4 < 0.1%
 
Familial_Mediterranean_fever 4 < 0.1%
 
Merosin_deficient_congenital_muscular_dystrophy 3 < 0.1%
 
Limb-girdle_muscular_dystrophy,_type_2B 3 < 0.1%
 
Brugada_syndrome_1 3 < 0.1%
 
Wilson_disease 3 < 0.1%
 
Other values (91) 116 0.2%
 
(Missing) 65021 99.7%
 

Length

Max length180
Mean length3.087301344
Min length3
ValueCountFrequency (%) 
Lowercase_Letter 26 38.2%
 
Uppercase_Letter 25 36.8%
 
Decimal_Number 10 14.7%
 
Other_Punctuation 2 2.9%
 
Math_Symbol 1 1.5%
 
Open_Punctuation 1 1.5%
 
Close_Punctuation 1 1.5%
 
Dash_Punctuation 1 1.5%
 
Connector_Punctuation 1 1.5%
 
ValueCountFrequency (%) 
Latin 51 75.0%
 
Common 17 25.0%
 
ValueCountFrequency (%) 
ASCII 68 100.0%
 

CLNHGVS
Categorical

HIGH CARDINALITY
UNIFORM
UNIQUE
Distinct count65188
Unique (%)100.0%
Missing0
Missing (%)0.0%
Memory size509.4 KiB
NC_000005.9:g.112155019C>T
 
1
NC_000017.10:g.41243899A>G
 
1
NC_000013.10:g.32937450C>T
 
1
NC_000011.9:g.17542554C>A
 
1
NC_000017.10:g.41215378G>A
 
1
Other values (65183)
65183
ValueCountFrequency (%) 
NC_000005.9:g.112155019C>T 1 < 0.1%
 
NC_000017.10:g.41243899A>G 1 < 0.1%
 
NC_000013.10:g.32937450C>T 1 < 0.1%
 
NC_000011.9:g.17542554C>A 1 < 0.1%
 
NC_000017.10:g.41215378G>A 1 < 0.1%
 
NC_000017.10:g.39913781G>A 1 < 0.1%
 
NC_000011.9:g.108158412G>A 1 < 0.1%
 
NC_000016.9:g.57931805C>T 1 < 0.1%
 
NC_000001.10:g.45799001C>T 1 < 0.1%
 
NC_000017.10:g.59934436G>C 1 < 0.1%
 
Other values (65178) 65178 > 99.9%
 

Length

Max length102
Mean length26.42133522
Min length20
ValueCountFrequency (%) 
Lowercase_Letter 11 34.4%
 
Decimal_Number 10 31.2%
 
Uppercase_Letter 5 15.6%
 
Other_Punctuation 2 6.2%
 
Math_Symbol 1 3.1%
 
Open_Punctuation 1 3.1%
 
Close_Punctuation 1 3.1%
 
Connector_Punctuation 1 3.1%
 
ValueCountFrequency (%) 
Latin 16 50.0%
 
Common 16 50.0%
 
ValueCountFrequency (%) 
ASCII 32 100.0%
 

CLNSIGINCL
Categorical

HIGH CARDINALITY
MISSING
UNIFORM
Distinct count137
Unique (%)82.0%
Missing65021
Missing (%)99.7%
Memory size509.4 KiB
424754:Likely_pathogenic
 
2
4299:Pathogenic
 
2
495755:Pathogenic
 
2
236068:Pathogenic
 
2
424791:Likely_pathogenic
 
2
Other values (132)
157
ValueCountFrequency (%) 
424754:Likely_pathogenic 2 < 0.1%
 
4299:Pathogenic 2 < 0.1%
 
495755:Pathogenic 2 < 0.1%
 
236068:Pathogenic 2 < 0.1%
 
424791:Likely_pathogenic 2 < 0.1%
 
487487:Pathogenic 2 < 0.1%
 
12182:Pathogenic 2 < 0.1%
 
440849:Pathogenic 2 < 0.1%
 
2067:risk_factor 2 < 0.1%
 
219354:Pathogenic 2 < 0.1%
 
Other values (127) 147 0.2%
 
(Missing) 65021 99.7%
 

Length

Max length128
Mean length3.04849052
Min length3
ValueCountFrequency (%) 
Lowercase_Letter 17 47.2%
 
Decimal_Number 10 27.8%
 
Uppercase_Letter 5 13.9%
 
Other_Punctuation 2 5.6%
 
Math_Symbol 1 2.8%
 
Connector_Punctuation 1 2.8%
 
ValueCountFrequency (%) 
Latin 22 61.1%
 
Common 14 38.9%
 
ValueCountFrequency (%) 
ASCII 36 100.0%
 

CLNVC
Categorical

Distinct count7
Unique (%)< 0.1%
Missing0
Missing (%)0.0%
Memory size509.4 KiB
single_nucleotide_variant
61281
Deletion
 
2509
Duplication
 
1034
Indel
 
247
Insertion
 
95
Other values (2)
 
22
ValueCountFrequency (%) 
single_nucleotide_variant 61281 94.0%
 
Deletion 2509 3.8%
 
Duplication 1034 1.6%
 
Indel 247 0.4%
 
Insertion 95 0.1%
 
Inversion 17 < 0.1%
 
Microsatellite 5 < 0.1%
 

Length

Max length25
Mean length24.01951279
Min length5
ValueCountFrequency (%) 
Lowercase_Letter 15 78.9%
 
Uppercase_Letter 3 15.8%
 
Connector_Punctuation 1 5.3%
 
ValueCountFrequency (%) 
Latin 18 94.7%
 
Common 1 5.3%
 
ValueCountFrequency (%) 
ASCII 19 100.0%
 

CLNVI
Categorical

HIGH CARDINALITY
MISSING
UNIFORM
Distinct count27654
Unique (%)> 99.9%
Missing37529
Missing (%)57.6%
Memory size509.4 KiB
OMIM_Allelic_Variant:609332.0008
 
2
UniProtKB_(protein):Q06124#VAR_027184
 
2
UniProtKB_(protein):Q06124#VAR_015610
 
2
UniProtKB_(protein):P38398#VAR_020691
 
2
UniProtKB_(protein):P38398#VAR_007765
 
2
Other values (27649)
27649
ValueCountFrequency (%) 
OMIM_Allelic_Variant:609332.0008 2 < 0.1%
 
UniProtKB_(protein):Q06124#VAR_027184 2 < 0.1%
 
UniProtKB_(protein):Q06124#VAR_015610 2 < 0.1%
 
UniProtKB_(protein):P38398#VAR_020691 2 < 0.1%
 
UniProtKB_(protein):P38398#VAR_007765 2 < 0.1%
 
Illumina_Clinical_Services_Laboratory,Illumina:206764 1 < 0.1%
 
ARUP_Laboratories,_Molecular_Genetics_and_Genomics:103098|Illumina_Clinical_Services_Laboratory,Illumina:126522 1 < 0.1%
 
Illumina_Clinical_Services_Laboratory,Illumina:651733 1 < 0.1%
 
UniProtKB_(protein):P38398#VAR_070477 1 < 0.1%
 
OMIM_Allelic_Variant:607585.0028|OMIM_Allelic_Variant:607585.0029 1 < 0.1%
 
Other values (27644) 27644 42.4%
 
(Missing) 37529 57.6%
 

Length

Max length585
Mean length27.46433393
Min length3
ValueCountFrequency (%) 
Lowercase_Letter 31 37.8%
 
Uppercase_Letter 26 31.7%
 
Decimal_Number 10 12.2%
 
Other_Punctuation 8 9.8%
 
Math_Symbol 3 3.7%
 
Open_Punctuation 1 1.2%
 
Close_Punctuation 1 1.2%
 
Dash_Punctuation 1 1.2%
 
Connector_Punctuation 1 1.2%
 
ValueCountFrequency (%) 
Latin 57 69.5%
 
Common 25 30.5%
 
ValueCountFrequency (%) 
ASCII 77 100.0%
 

MC
Categorical

HIGH CARDINALITY
MISSING
Distinct count90
Unique (%)0.1%
Missing846
Missing (%)1.3%
Memory size509.4 KiB
SO:0001583|missense_variant
28457
SO:0001819|synonymous_variant
16549
SO:0001627|intron_variant
7534
SO:0001583|missense_variant,SO:0001627|intron_variant
 
2803
SO:0001589|frameshift_variant
 
1622
Other values (85)
7377
ValueCountFrequency (%) 
SO:0001583|missense_variant 28457 43.7%
 
SO:0001819|synonymous_variant 16549 25.4%
 
SO:0001627|intron_variant 7534 11.6%
 
SO:0001583|missense_variant,SO:0001627|intron_variant 2803 4.3%
 
SO:0001589|frameshift_variant 1622 2.5%
 
SO:0001587|nonsense 1573 2.4%
 
SO:0001627|intron_variant,SO:0001819|synonymous_variant 1148 1.8%
 
SO:0001583|missense_variant,SO:0001623|5_prime_UTR_variant 724 1.1%
 
SO:0001623|5_prime_UTR_variant 516 0.8%
 
SO:0001575|splice_donor_variant 504 0.8%
 
Other values (80) 2912 4.5%
 
(Missing) 846 1.3%
 

Length

Max length121
Mean length30.09966558
Min length3
ValueCountFrequency (%) 
Lowercase_Letter 19 47.5%
 
Decimal_Number 10 25.0%
 
Uppercase_Letter 7 17.5%
 
Other_Punctuation 2 5.0%
 
Connector_Punctuation 1 2.5%
 
Math_Symbol 1 2.5%
 
ValueCountFrequency (%) 
Latin 26 65.0%
 
Common 14 35.0%
 
ValueCountFrequency (%) 
ASCII 40 100.0%
 

ORIGIN
Real number (ℝ≥0)

SKEWED
Distinct count31
Unique (%)< 0.1%
Missing0
Missing (%)0.0%
Infinite0
Infinite (%)0.0%
Mean1.342486347
Minimum0
Maximum513
Zeros14
Zeros (%)< 0.1%
Memory size509.4 KiB

Quantile statistics

Minimum0
5-th percentile1
Q11
median1
Q31
95-th percentile1
Maximum513
Range513
Interquartile range (IQR)0

Descriptive statistics

Standard deviation5.688771576
Coefficient of variation (CV)4.237489333
Kurtosis6034.475043
Mean1.342486347
Median Absolute Deviation (MAD)0.6724357811
Skewness68.58619745
Sum87514
Variance32.36212205
Histogram with fixed size bins (bins=10)
Histogram with variable size bins (bins=[0.00e+00 5.00e-01 1.50e+00 2.50e+00 3.50e+00 ... 3.25e+01 3.40e+01 5.10e+01 6.70e+01 5.13e+02], "bayesian blocks" binning strategy used)
ValueCountFrequency (%) 
1 63940 98.1%
 
33 330 0.5%
 
3 270 0.4%
 
5 200 0.3%
 
17 189 0.3%
 
9 144 0.2%
 
25 21 < 0.1%
 
49 16 < 0.1%
 
0 14 < 0.1%
 
32 11 < 0.1%
 
Other values (21) 53 0.1%
 
ValueCountFrequency (%) 
0 14 < 0.1%
 
1 63940 98.1%
 
2 5 < 0.1%
 
3 270 0.4%
 
4 3 < 0.1%
 
ValueCountFrequency (%) 
513 6 < 0.1%
 
129 1 < 0.1%
 
85 1 < 0.1%
 
69 1 < 0.1%
 
65 6 < 0.1%
 

SSR
Categorical

MISSING
Distinct count2
Unique (%)1.5%
Missing65058
Missing (%)99.8%
Memory size509.4 KiB
1
119
16
 
11
ValueCountFrequency (%) 
1 119 0.2%
 
16 11 < 0.1%
 
(Missing) 65058 99.8%
 

Length

Max length4
Mean length3.000168743
Min length3
ValueCountFrequency (%) 
Decimal_Number 3 50.0%
 
Lowercase_Letter 2 33.3%
 
Other_Punctuation 1 16.7%
 
ValueCountFrequency (%) 
Common 4 66.7%
 
Latin 2 33.3%
 
ValueCountFrequency (%) 
ASCII 6 100.0%
 

CLASS
Boolean

Distinct count2
Unique (%)< 0.1%
Missing0
Missing (%)0.0%
Memory size509.4 KiB
0
48754
1
16434
ValueCountFrequency (%) 
0 48754 74.8%
 
1 16434 25.2%
 

Allele
Categorical

HIGH CARDINALITY
Distinct count374
Unique (%)0.6%
Missing0
Missing (%)0.0%
Memory size509.4 KiB
T
19991
A
19800
G
11397
C
10761
-
 
2510
Other values (369)
 
729
ValueCountFrequency (%) 
T 19991 30.7%
 
A 19800 30.4%
 
G 11397 17.5%
 
C 10761 16.5%
 
- 2510 3.9%
 
AA 46 0.1%
 
TT 38 0.1%
 
AT 20 < 0.1%
 
CA 19 < 0.1%
 
CT 17 < 0.1%
 
Other values (364) 589 0.9%
 

Length

Max length99
Mean length1.054979444
Min length1
ValueCountFrequency (%) 
Uppercase_Letter 4 80.0%
 
Dash_Punctuation 1 20.0%
 
ValueCountFrequency (%) 
Latin 4 80.0%
 
Common 1 20.0%
 
ValueCountFrequency (%) 
ASCII 5 100.0%
 

Consequence
Categorical

Distinct count48
Unique (%)0.1%
Missing0
Missing (%)0.0%
Memory size509.4 KiB
missense_variant
31444
synonymous_variant
17668
intron_variant
 
4403
splice_region_variant&intron_variant
 
3393
frameshift_variant
 
1774
Other values (43)
6506
ValueCountFrequency (%) 
missense_variant 31444 48.2%
 
synonymous_variant 17668 27.1%
 
intron_variant 4403 6.8%
 
splice_region_variant&intron_variant 3393 5.2%
 
frameshift_variant 1774 2.7%
 
stop_gained 1702 2.6%
 
missense_variant&splice_region_variant 964 1.5%
 
5_prime_UTR_variant 626 1.0%
 
inframe_deletion 583 0.9%
 
splice_region_variant&synonymous_variant 552 0.8%
 
Other values (38) 2079 3.2%
 

Length

Max length62
Mean length18.12206234
Min length9
ValueCountFrequency (%) 
Lowercase_Letter 22 73.3%
 
Uppercase_Letter 4 13.3%
 
Decimal_Number 2 6.7%
 
Other_Punctuation 1 3.3%
 
Connector_Punctuation 1 3.3%
 
ValueCountFrequency (%) 
Latin 26 86.7%
 
Common 4 13.3%
 
ValueCountFrequency (%) 
ASCII 30 100.0%
 

IMPACT
Categorical

Distinct count4
Unique (%)< 0.1%
Missing0
Missing (%)0.0%
Memory size509.4 KiB
MODERATE
33212
LOW
21642
MODIFIER
 
5582
HIGH
 
4752
ValueCountFrequency (%) 
MODERATE 33212 50.9%
 
LOW 21642 33.2%
 
MODIFIER 5582 8.6%
 
HIGH 4752 7.3%
 

Length

Max length8
Mean length6.048444499
Min length3
ValueCountFrequency (%) 
Uppercase_Letter 13 100.0%
 
ValueCountFrequency (%) 
Latin 13 100.0%
 
ValueCountFrequency (%) 
ASCII 13 100.0%
 

SYMBOL
Categorical

HIGH CARDINALITY
Distinct count2328
Unique (%)3.6%
Missing16
Missing (%)< 0.1%
Memory size509.4 KiB
TTN
 
2765
BRCA2
 
1934
ATM
 
1909
APC
 
1228
BRCA1
 
1075
Other values (2323)
56261
ValueCountFrequency (%) 
TTN 2765 4.2%
 
BRCA2 1934 3.0%
 
ATM 1909 2.9%
 
APC 1228 1.9%
 
BRCA1 1075 1.6%
 
MSH6 1048 1.6%
 
LDLR 905 1.4%
 
PALB2 794 1.2%
 
NF1 732 1.1%
 
TSC2 640 1.0%
 
Other values (2318) 52142 80.0%
 

Length

Max length12
Mean length4.607765233
Min length2
ValueCountFrequency (%) 
Uppercase_Letter 26 61.9%
 
Decimal_Number 10 23.8%
 
Lowercase_Letter 5 11.9%
 
Dash_Punctuation 1 2.4%
 
ValueCountFrequency (%) 
Latin 31 73.8%
 
Common 11 26.2%
 
ValueCountFrequency (%) 
ASCII 42 100.0%
 

Feature_type
Categorical

Distinct count2
Unique (%)< 0.1%
Missing14
Missing (%)< 0.1%
Memory size509.4 KiB
Transcript
65172
MotifFeature
 
2
ValueCountFrequency (%) 
Transcript 65172 > 99.9%
 
MotifFeature 2 < 0.1%
 
(Missing) 14 < 0.1%
 

Length

Max length12
Mean length9.998558017
Min length3
ValueCountFrequency (%) 
Lowercase_Letter 12 80.0%
 
Uppercase_Letter 3 20.0%
 
ValueCountFrequency (%) 
Latin 15 100.0%
 
ValueCountFrequency (%) 
ASCII 15 100.0%
 

Feature
Categorical

HIGH CARDINALITY
Distinct count2369
Unique (%)3.6%
Missing14
Missing (%)< 0.1%
Memory size509.4 KiB
NM_001267550.1
 
2765
NM_000059.3
 
1934
NM_000051.3
 
1909
XM_005271975.1
 
1228
NM_007300.3
 
1075
Other values (2364)
56263
ValueCountFrequency (%) 
NM_001267550.1 2765 4.2%
 
NM_000059.3 1934 3.0%
 
NM_000051.3 1909 2.9%
 
XM_005271975.1 1228 1.9%
 
NM_007300.3 1075 1.6%
 
NM_000179.2 1048 1.6%
 
NM_000527.4 905 1.4%
 
NM_024675.3 794 1.2%
 
XM_005257983.1 732 1.1%
 
XM_005255527.1 640 1.0%
 
Other values (2359) 52144 80.0%
 

Length

Max length17
Mean length12.22257164
Min length3
ValueCountFrequency (%) 
Decimal_Number 10 43.5%
 
Lowercase_Letter 6 26.1%
 
Uppercase_Letter 5 21.7%
 
Other_Punctuation 1 4.3%
 
Connector_Punctuation 1 4.3%
 
ValueCountFrequency (%) 
Common 12 52.2%
 
Latin 11 47.8%
 
ValueCountFrequency (%) 
ASCII 23 100.0%
 

BIOTYPE
Categorical

Distinct count2
Unique (%)< 0.1%
Missing16
Missing (%)< 0.1%
Memory size509.4 KiB
protein_coding
65158
misc_RNA
 
14
ValueCountFrequency (%) 
protein_coding 65158 > 99.9%
 
misc_RNA 14 < 0.1%
 
(Missing) 16 < 0.1%
 

Length

Max length14
Mean length13.99601154
Min length3
ValueCountFrequency (%) 
Lowercase_Letter 13 76.5%
 
Uppercase_Letter 3 17.6%
 
Connector_Punctuation 1 5.9%
 
ValueCountFrequency (%) 
Latin 16 94.1%
 
Common 1 5.9%
 
ValueCountFrequency (%) 
ASCII 17 100.0%
 

EXON
Categorical

HIGH CARDINALITY
MISSING
Distinct count3264
Unique (%)5.8%
Missing8893
Missing (%)13.6%
Memory size509.4 KiB
16/16
 
1129
11/27
 
807
4/10
 
752
3/3
 
581
2/2
 
570
Other values (3259)
52456
ValueCountFrequency (%) 
16/16 1129 1.7%
 
11/27 807 1.2%
 
4/10 752 1.2%
 
3/3 581 0.9%
 
2/2 570 0.9%
 
10/24 525 0.8%
 
4/13 368 0.6%
 
326/363 368 0.6%
 
4/4 354 0.5%
 
4/11 342 0.5%
 
Other values (3254) 50499 77.5%
 
(Missing) 8893 13.6%
 

Length

Max length7
Mean length4.305700436
Min length3
ValueCountFrequency (%) 
Decimal_Number 10 76.9%
 
Lowercase_Letter 2 15.4%
 
Other_Punctuation 1 7.7%
 
ValueCountFrequency (%) 
Common 11 84.6%
 
Latin 2 15.4%
 
ValueCountFrequency (%) 
ASCII 13 100.0%
 

INTRON
Categorical

HIGH CARDINALITY
MISSING
Distinct count1929
Unique (%)21.9%
Missing56385
Missing (%)86.5%
Memory size509.4 KiB
47/362
 
93
2/9
 
68
3/9
 
65
4/9
 
54
5/9
 
54
Other values (1924)
8469
ValueCountFrequency (%) 
47/362 93 0.1%
 
2/9 68 0.1%
 
3/9 65 0.1%
 
4/9 54 0.1%
 
5/9 54 0.1%
 
5/15 53 0.1%
 
8/9 51 0.1%
 
9/9 51 0.1%
 
7/9 48 0.1%
 
10/15 47 0.1%
 
Other values (1919) 8219 12.6%
 
(Missing) 56385 86.5%
 

Length

Max length7
Mean length3.198288028
Min length3
ValueCountFrequency (%) 
Decimal_Number 10 76.9%
 
Lowercase_Letter 2 15.4%
 
Other_Punctuation 1 7.7%
 
ValueCountFrequency (%) 
Common 11 84.6%
 
Latin 2 15.4%
 
ValueCountFrequency (%) 
ASCII 13 100.0%
 

cDNA_position
Categorical

HIGH CARDINALITY
MISSING
Distinct count13970
Unique (%)24.8%
Missing8884
Missing (%)13.6%
Memory size509.4 KiB
852
 
31
878
 
30
729
 
29
433
 
29
452
 
29
Other values (13965)
56156
ValueCountFrequency (%) 
852 31 < 0.1%
 
878 30 < 0.1%
 
729 29 < 0.1%
 
433 29 < 0.1%
 
452 29 < 0.1%
 
789 29 < 0.1%
 
1201 29 < 0.1%
 
432 28 < 0.1%
 
566 28 < 0.1%
 
1253 28 < 0.1%
 
Other values (13960) 56014 85.9%
 
(Missing) 8884 13.6%
 

Length

Max length13
Mean length3.839924526
Min length1
ValueCountFrequency (%) 
Decimal_Number 10 71.4%
 
Lowercase_Letter 2 14.3%
 
Other_Punctuation 1 7.1%
 
Dash_Punctuation 1 7.1%
 
ValueCountFrequency (%) 
Common 12 85.7%
 
Latin 2 14.3%
 
ValueCountFrequency (%) 
ASCII 14 100.0%
 

CDS_position
Categorical

HIGH CARDINALITY
MISSING
Distinct count13663
Unique (%)24.7%
Missing9955
Missing (%)15.3%
Memory size509.4 KiB
1
 
36
696
 
35
465
 
32
379
 
32
402
 
31
Other values (13658)
55067
ValueCountFrequency (%) 
1 36 0.1%
 
696 35 0.1%
 
465 32 < 0.1%
 
379 32 < 0.1%
 
402 31 < 0.1%
 
207 30 < 0.1%
 
456 30 < 0.1%
 
769 30 < 0.1%
 
606 30 < 0.1%
 
27 30 < 0.1%
 
Other values (13653) 54917 84.2%
 
(Missing) 9955 15.3%
 

Length

Max length13
Mean length3.734935878
Min length1
ValueCountFrequency (%) 
Decimal_Number 10 71.4%
 
Lowercase_Letter 2 14.3%
 
Other_Punctuation 1 7.1%
 
Dash_Punctuation 1 7.1%
 
ValueCountFrequency (%) 
Common 12 85.7%
 
Latin 2 14.3%
 
ValueCountFrequency (%) 
ASCII 14 100.0%
 

Protein_position
Categorical

HIGH CARDINALITY
MISSING
Distinct count7339
Unique (%)13.3%
Missing9955
Missing (%)15.3%
Memory size509.4 KiB
1
 
100
27
 
80
127
 
78
69
 
75
12
 
74
Other values (7334)
54826
ValueCountFrequency (%) 
1 100 0.2%
 
27 80 0.1%
 
127 78 0.1%
 
69 75 0.1%
 
12 74 0.1%
 
158 73 0.1%
 
11 72 0.1%
 
57 71 0.1%
 
155 71 0.1%
 
196 71 0.1%
 
Other values (7329) 54468 83.6%
 
(Missing) 9955 15.3%
 

Length

Max length11
Mean length3.261919372
Min length1
ValueCountFrequency (%) 
Decimal_Number 10 71.4%
 
Lowercase_Letter 2 14.3%
 
Other_Punctuation 1 7.1%
 
Dash_Punctuation 1 7.1%
 
ValueCountFrequency (%) 
Common 12 85.7%
 
Latin 2 14.3%
 
ValueCountFrequency (%) 
ASCII 14 100.0%
 

Amino_acids
Categorical

HIGH CARDINALITY
MISSING
Distinct count1262
Unique (%)2.3%
Missing10004
Missing (%)15.3%
Memory size509.4 KiB
A
 
2005
L
 
2003
P
 
1858
S
 
1710
T
 
1677
Other values (1257)
45931
ValueCountFrequency (%) 
A 2005 3.1%
 
L 2003 3.1%
 
P 1858 2.9%
 
S 1710 2.6%
 
T 1677 2.6%
 
R/Q 1421 2.2%
 
R/H 1350 2.1%
 
G 1121 1.7%
 
R/C 1118 1.7%
 
A/T 1042 1.6%
 
Other values (1252) 39879 61.2%
 
(Missing) 10004 15.3%
 

Length

Max length45
Mean length2.494140026
Min length1
ValueCountFrequency (%) 
Uppercase_Letter 21 80.8%
 
Other_Punctuation 2 7.7%
 
Lowercase_Letter 2 7.7%
 
Dash_Punctuation 1 3.8%
 
ValueCountFrequency (%) 
Latin 23 88.5%
 
Common 3 11.5%
 
ValueCountFrequency (%) 
ASCII 26 100.0%
 

Codons
Categorical

HIGH CARDINALITY
MISSING
Distinct count2220
Unique (%)4.0%
Missing10004
Missing (%)15.3%
Memory size509.4 KiB
cGg/cAg
 
915
Cgg/Tgg
 
852
cGc/cAc
 
769
Cga/Tga
 
734
Cgc/Tgc
 
730
Other values (2215)
51184
ValueCountFrequency (%) 
cGg/cAg 915 1.4%
 
Cgg/Tgg 852 1.3%
 
cGc/cAc 769 1.2%
 
Cga/Tga 734 1.1%
 
Cgc/Tgc 730 1.1%
 
gaC/gaT 701 1.1%
 
gcG/gcA 681 1.0%
 
Gtg/Atg 680 1.0%
 
ccG/ccA 643 1.0%
 
gcC/gcT 614 0.9%
 
Other values (2210) 47865 73.4%
 
(Missing) 10004 15.3%
 

Length

Max length133
Mean length6.490013499
Min length3
ValueCountFrequency (%) 
Lowercase_Letter 5 45.5%
 
Uppercase_Letter 4 36.4%
 
Other_Punctuation 1 9.1%
 
Dash_Punctuation 1 9.1%
 
ValueCountFrequency (%) 
Latin 9 81.8%
 
Common 2 18.2%
 
ValueCountFrequency (%) 
ASCII 11 100.0%
 

DISTANCE
Real number (ℝ≥0)

MISSING
Distinct count96
Unique (%)88.9%
Missing65080
Missing (%)99.8%
Infinite0
Infinite (%)0.0%
Mean825.7314815
Minimum1
Maximum4759
Zeros0
Zeros (%)0.0%
Memory size509.4 KiB

Quantile statistics

Minimum1
5-th percentile5
Q155.5
median469
Q31415
95-th percentile2272.2
Maximum4759
Range4758
Interquartile range (IQR)1359.5

Descriptive statistics

Standard deviation1069.363315
Coefficient of variation (CV)1.295049709
Kurtosis3.657808404
Mean825.7314815
Median Absolute Deviation (MAD)804.9283265
Skewness1.87461385
Sum89179
Variance1143537.899
Histogram with fixed size bins (bins=10)
ValueCountFrequency (%) 
28 3 < 0.1%
 
30 2 < 0.1%
 
11 2 < 0.1%
 
5 2 < 0.1%
 
13 2 < 0.1%
 
551 2 < 0.1%
 
87 2 < 0.1%
 
466 2 < 0.1%
 
56 2 < 0.1%
 
3 2 < 0.1%
 
Other values (86) 87 0.1%
 
(Missing) 65080 99.8%
 
ValueCountFrequency (%) 
1 2 < 0.1%
 
3 2 < 0.1%
 
4 1 < 0.1%
 
5 2 < 0.1%
 
10 1 < 0.1%
 
ValueCountFrequency (%) 
4759 1 < 0.1%
 
4402 1 < 0.1%
 
4323 1 < 0.1%
 
4296 1 < 0.1%
 
4264 1 < 0.1%
 

STRAND
Categorical

HIGH CORRELATION
Distinct count2
Unique (%)< 0.1%
Missing14
Missing (%)< 0.1%
Memory size509.4 KiB
-1
32804
1
32370
ValueCountFrequency (%) 
-1 32804 50.3%
 
1 32370 49.7%
 
(Missing) 14 < 0.1%
 

Length

Max length4
Mean length3.503221452
Min length3
ValueCountFrequency (%) 
Decimal_Number 2 33.3%
 
Lowercase_Letter 2 33.3%
 
Other_Punctuation 1 16.7%
 
Dash_Punctuation 1 16.7%
 
ValueCountFrequency (%) 
Common 4 66.7%
 
Latin 2 33.3%
 
ValueCountFrequency (%) 
ASCII 6 100.0%
 

BAM_EDIT
Categorical

MISSING
Distinct count2
Unique (%)< 0.1%
Missing33219
Missing (%)51.0%
Memory size509.4 KiB
OK
31707
FAILED
 
262
ValueCountFrequency (%) 
OK 31707 48.6%
 
FAILED 262 0.4%
 
(Missing) 33219 51.0%
 

Length

Max length6
Mean length2.525664233
Min length2
ValueCountFrequency (%) 
Uppercase_Letter 8 80.0%
 
Lowercase_Letter 2 20.0%
 
ValueCountFrequency (%) 
Latin 10 100.0%
 
ValueCountFrequency (%) 
ASCII 10 100.0%
 

SIFT
Categorical

MISSING
Distinct count4
Unique (%)< 0.1%
Missing40352
Missing (%)61.9%
Memory size509.4 KiB
deleterious
11500
tolerated
11484
tolerated_low_confidence
 
1077
deleterious_low_confidence
 
775
ValueCountFrequency (%) 
deleterious 11500 17.6%
 
tolerated 11484 17.6%
 
tolerated_low_confidence 1077 1.7%
 
deleterious_low_confidence 775 1.2%
 
(Missing) 40352 61.9%
 

Length

Max length26
Mean length6.088697306
Min length3
ValueCountFrequency (%) 
Lowercase_Letter 14 93.3%
 
Connector_Punctuation 1 6.7%
 
ValueCountFrequency (%) 
Latin 14 93.3%
 
Common 1 6.7%
 
ValueCountFrequency (%) 
ASCII 15 100.0%
 

PolyPhen
Categorical

MISSING
Distinct count4
Unique (%)< 0.1%
Missing40392
Missing (%)62.0%
Memory size509.4 KiB
benign
13329
probably_damaging
7531
possibly_damaging
3932
unknown
 
4
ValueCountFrequency (%) 
benign 13329 20.4%
 
probably_damaging 7531 11.6%
 
possibly_damaging 3932 6.0%
 
unknown 4 < 0.1%
 
(Missing) 40392 62.0%
 

Length

Max length17
Mean length6.075489354
Min length3
ValueCountFrequency (%) 
Lowercase_Letter 17 94.4%
 
Connector_Punctuation 1 5.6%
 
ValueCountFrequency (%) 
Latin 17 94.4%
 
Common 1 5.6%
 
ValueCountFrequency (%) 
ASCII 18 100.0%
 

MOTIF_NAME
Categorical

MISSING
UNIFORM
Distinct count2
Unique (%)100.0%
Missing65186
Missing (%)> 99.9%
Memory size509.4 KiB
Egr1:MA0341.1
1
FOXA1:MA0546.1
1
ValueCountFrequency (%) 
Egr1:MA0341.1 1 < 0.1%
 
FOXA1:MA0546.1 1 < 0.1%
 
(Missing) 65186 > 99.9%
 

Length

Max length14
Mean length3.000322145
Min length3
ValueCountFrequency (%) 
Decimal_Number 6 33.3%
 
Uppercase_Letter 6 33.3%
 
Lowercase_Letter 4 22.2%
 
Other_Punctuation 2 11.1%
 
ValueCountFrequency (%) 
Latin 10 55.6%
 
Common 8 44.4%
 
ValueCountFrequency (%) 
ASCII 18 100.0%
 

MOTIF_POS
Boolean

MISSING
Distinct count1
Unique (%)50.0%
Missing65186
Missing (%)> 99.9%
Memory size509.4 KiB
1
 
2
(Missing)
65186
ValueCountFrequency (%) 
1 2 < 0.1%
 
(Missing) 65186 > 99.9%
 

HIGH_INF_POS
Categorical

MISSING
Distinct count1
Unique (%)50.0%
Missing65186
Missing (%)> 99.9%
Memory size509.4 KiB
N
2
ValueCountFrequency (%) 
N 2 < 0.1%
 
(Missing) 65186 > 99.9%
 

Length

Max length3
Mean length2.999938639
Min length1
ValueCountFrequency (%) 
Lowercase_Letter 2 66.7%
 
Uppercase_Letter 1 33.3%
 
ValueCountFrequency (%) 
Latin 3 100.0%
 
ValueCountFrequency (%) 
ASCII 3 100.0%
 

MOTIF_SCORE_CHANGE
Categorical

HIGH CORRELATION
MISSING
UNIFORM
Distinct count2
Unique (%)100.0%
Missing65186
Missing (%)> 99.9%
Memory size509.4 KiB
-0.063
1
-0.097
1
ValueCountFrequency (%) 
-0.063 1 < 0.1%
 
-0.097 1 < 0.1%
 
(Missing) 65186 > 99.9%
 

Length

Max length20
Mean length3.000306805
Min length3
ValueCountFrequency (%) 
Decimal_Number 4 50.0%
 
Lowercase_Letter 2 25.0%
 
Other_Punctuation 1 12.5%
 
Dash_Punctuation 1 12.5%
 
ValueCountFrequency (%) 
Common 6 75.0%
 
Latin 2 25.0%
 
ValueCountFrequency (%) 
ASCII 8 100.0%
 

LoFtool
Real number (ℝ≥0)

MISSING
Distinct count1195
Unique (%)2.0%
Missing4213
Missing (%)6.5%
Infinite0
Infinite (%)0.0%
Mean0.3450584315
Minimum6.89e-05
Maximum1
Zeros0
Zeros (%)0.0%
Memory size509.4 KiB

Quantile statistics

Minimum6.89e-05
5-th percentile0.00145
Q10.0243
median0.157
Q30.71
95-th percentile0.971
Maximum1
Range0.9999311
Interquartile range (IQR)0.6857

Descriptive statistics

Standard deviation0.3612384434
Coefficient of variation (CV)1.046890644
Kurtosis-1.201434912
Mean0.3450584315
Median Absolute Deviation (MAD)0.3223397243
Skewness0.6522583053
Sum21039.93786
Variance0.130493213
Histogram with fixed size bins (bins=10)
ValueCountFrequency (%) 
0.971 2836 4.4%
 
0.0896 1953 3.0%
 
0.782 1909 2.9%
 
0.00386 1228 1.9%
 
0.0212 1094 1.7%
 
0.00207 1075 1.6%
 
0.116 1068 1.6%
 
0.0737 905 1.4%
 
0.965 798 1.2%
 
0.000276 640 1.0%
 
Other values (1185) 47469 72.8%
 
(Missing) 4213 6.5%
 
ValueCountFrequency (%) 
6.89e-05 60 0.1%
 
0.000138 162 0.2%
 
0.000207 118 0.2%
 
0.000276 640 1.0%
 
0.000344 197 0.3%
 
ValueCountFrequency (%) 
1 3 < 0.1%
 
0.999 3 < 0.1%
 
0.998 133 0.2%
 
0.997 45 0.1%
 
0.996 1 < 0.1%
 

CADD_PHRED
Real number (ℝ≥0)

HIGH CORRELATION
MISSING
Distinct count9324
Unique (%)14.5%
Missing1092
Missing (%)1.7%
Infinite0
Infinite (%)0.0%
Mean15.68561648
Minimum0.001
Maximum99
Zeros0
Zeros (%)0.0%
Memory size509.4 KiB

Quantile statistics

Minimum0.001
5-th percentile0.07
Q17.141
median14.09
Q324.1
95-th percentile34
Maximum99
Range98.999
Interquartile range (IQR)16.959

Descriptive statistics

Standard deviation10.83635024
Coefficient of variation (CV)0.690846308
Kurtosis-0.3988884313
Mean15.68561648
Median Absolute Deviation (MAD)9.19150042
Skewness0.3787342923
Sum1005385.274
Variance117.4264864
Histogram with fixed size bins (bins=10)
ValueCountFrequency (%) 
34 1431 2.2%
 
35 1263 1.9%
 
33 931 1.4%
 
32 828 1.3%
 
0.001 509 0.8%
 
0.002 469 0.7%
 
31 458 0.7%
 
23 427 0.7%
 
23.1 412 0.6%
 
23.2 405 0.6%
 
Other values (9314) 56963 87.4%
 
(Missing) 1092 1.7%
 
ValueCountFrequency (%) 
0.001 509 0.8%
 
0.002 469 0.7%
 
0.003 212 0.3%
 
0.004 144 0.2%
 
0.005 108 0.2%
 
ValueCountFrequency (%) 
99 1 < 0.1%
 
81 1 < 0.1%
 
79 1 < 0.1%
 
74 1 < 0.1%
 
73 1 < 0.1%
 

CADD_RAW
Real number (ℝ)

HIGH CORRELATION
MISSING
Distinct count63803
Unique (%)99.5%
Missing1092
Missing (%)1.7%
Infinite0
Infinite (%)0.0%
Mean2.554131453
Minimum-5.477391
Maximum46.556261
Zeros0
Zeros (%)0.0%
Memory size509.4 KiB

Quantile statistics

Minimum-5.477391
5-th percentile-0.70556925
Q10.46295075
median1.6429485
Q34.38139175
95-th percentile7.45498775
Maximum46.556261
Range52.033652
Interquartile range (IQR)3.918441

Descriptive statistics

Standard deviation2.961553499
Coefficient of variation (CV)1.159514909
Kurtosis5.94858469
Mean2.554131453
Median Absolute Deviation (MAD)2.309544805
Skewness1.609072348
Sum163709.6096
Variance8.770799128
Histogram with fixed size bins (bins=10)
ValueCountFrequency (%) 
1.463563 3 < 0.1%
 
5.456311 2 < 0.1%
 
3.363536 2 < 0.1%
 
1.344155 2 < 0.1%
 
-0.019198 2 < 0.1%
 
2.534534 2 < 0.1%
 
4.437403 2 < 0.1%
 
0.753203 2 < 0.1%
 
1.549289 2 < 0.1%
 
6.273175 2 < 0.1%
 
Other values (63793) 64075 98.3%
 
(Missing) 1092 1.7%
 
ValueCountFrequency (%) 
-5.477391 1 < 0.1%
 
-4.682013 1 < 0.1%
 
-4.472198 1 < 0.1%
 
-4.450451 1 < 0.1%
 
-4.314148 1 < 0.1%
 
ValueCountFrequency (%) 
46.556261 1 < 0.1%
 
34.23672 1 < 0.1%
 
33.935525 1 < 0.1%
 
32.934203 1 < 0.1%
 
32.693999 1 < 0.1%
 

BLOSUM62
Real number (ℝ)

MISSING
Distinct count6
Unique (%)< 0.1%
Missing39595
Missing (%)60.7%
Infinite0
Infinite (%)0.0%
Mean-0.40225843
Minimum-3
Maximum3
Zeros0
Zeros (%)0.0%
Memory size509.4 KiB

Quantile statistics

Minimum-3
5-th percentile-3
Q1-2
median-1
Q31
95-th percentile3
Maximum3
Range6
Interquartile range (IQR)3

Descriptive statistics

Standard deviation1.872684039
Coefficient of variation (CV)-4.655425216
Kurtosis-1.231940545
Mean-0.40225843
Median Absolute Deviation (MAD)1.689507893
Skewness0.1193541477
Sum-10295
Variance3.506945509
Histogram with fixed size bins (bins=10)
ValueCountFrequency (%) 
1 7696 11.8%
 
-1 5336 8.2%
 
-3 4450 6.8%
 
-2 4300 6.6%
 
2 2138 3.3%
 
3 1673 2.6%
 
(Missing) 39595 60.7%
 
ValueCountFrequency (%) 
-3 4450 6.8%
 
-2 4300 6.6%
 
-1 5336 8.2%
 
1 7696 11.8%
 
2 2138 3.3%
 
ValueCountFrequency (%) 
3 1673 2.6%
 
2 2138 3.3%
 
1 7696 11.8%
 
-1 5336 8.2%
 
-2 4300 6.6%
 

Interactions

Correlations

Pearson's r

The Pearson's correlation coefficient (r) is a measure of linear correlation between two variables. It's value lies between -1 and +1, -1 indicating total negative linear correlation, 0 indicating no linear correlation and 1 indicating total positive linear correlation. Furthermore, r is invariant under separate changes in location and scale of the two variables, implying that for a linear function the angle to the x-axis does not affect r.

To calculate r for two variables X and Y, one divides the covariance of X and Y by the product of their standard deviations.

Spearman's ρ

The Spearman's rank correlation coefficient (ρ) is a measure of monotonic correlation between two variables, and is therefore better in catching nonlinear monotonic correlations than Pearson's r. It's value lies between -1 and +1, -1 indicating total negative monotonic correlation, 0 indicating no monotonic correlation and 1 indicating total positive monotonic correlation.

To calculate ρ for two variables X and Y, one divides the covariance of the rank variables of X and Y by the product of their standard deviations.

Kendall's τ

Similarly to Spearman's rank correlation coefficient, the Kendall rank correlation coefficient (τ) measures ordinal association between two variables. It's value lies between -1 and +1, -1 indicating total negative correlation, 0 indicating no correlation and 1 indicating total positive correlation.

To calculate τ for two variables X and Y, one determines the number of concordant and discordant pairs of observations. τ is given by the number of concordant pairs minus the discordant pairs divided by the total number of pairs.

Missing values

Sample

First rows

CHROMPOSREFALTAF_ESPAF_EXACAF_TGPCLNDISDBCLNDISDBINCLCLNDNCLNDNINCLCLNHGVSCLNSIGINCLCLNVCCLNVIMCORIGINSSRCLASSAlleleConsequenceIMPACTSYMBOLFeature_typeFeatureBIOTYPEEXONINTRONcDNA_positionCDS_positionProtein_positionAmino_acidsCodonsDISTANCESTRANDBAM_EDITSIFTPolyPhenMOTIF_NAMEMOTIF_POSHIGH_INF_POSMOTIF_SCORE_CHANGELoFtoolCADD_PHREDCADD_RAWBLOSUM62
011168180GC0.07710.100200.1066MedGen:CN169374NaNnot_specifiedNaNNC_000001.10:g.1168180G>CNaNsingle_nucleotide_variantUniProtKB_(protein):Q96L58#VAR_059317SO:0001583|missense_variant1NaN0Cmissense_variantMODERATEB3GALT6TranscriptNM_080605.3protein_coding1/1NaN552522174E/DgaG/gaCNaN1.0NaNtoleratedbenignNaNNaNNaNNaNNaN1.053-0.2086822.0
111470752GA0.00000.000000.0000MedGen:C1843891,OMIM:607454,Orphanet:ORPHA98773|MedGen:CN517202NaNSpinocerebellar_ataxia_21|not_providedNaNNC_000001.10:g.1470752G>ANaNsingle_nucleotide_variantOMIM_Allelic_Variant:616101.0001|UniProtKB_(protein):Q5SV17#VAR_071909SO:0001583|missense_variant1NaN0Amissense_variantMODERATETMEM240TranscriptNM_001114748.1protein_coding4/4NaN523509170P/LcCg/cTgNaN-1.0OKdeleterious_low_confidencebenignNaNNaNNaNNaNNaN31.0006.517838-3.0
211737942AG0.00000.000010.0000Human_Phenotype_Ontology:HP:0000486,MedGen:C0038379|Human_Phenotype_Ontology:HP:0000639,MedGen:C0028738|Human_Phenotype_Ontology:HP:0000821,MedGen:C0020676,Orphanet:ORPHA181396|Human_Phenotype_Ontology:HP:0001249,MedGen:C1843367|Human_Phenotype_Ontology:HP:0001250,MedGen:C0036572|Human_Phenotype_Ontology:HP:0001252,MedGen:C0026827|Human_Phenotype_Ontology:HP:0001263,MedGen:C4020875|Human_Phenotype_Ontology:HP:0001508,MedGen:C0231246|Human_Phenotype_Ontology:HP:0001510,MedGen:C3552463|Human_Phenotype_Ontology:HP:0002376,MedGen:C1855009|Human_Phenotype_Ontology:HP:0002474,MedGen:C1847610|Human_Phenotype_Ontology:HP:0002509,MedGen:C1838391|Human_Phenotype_Ontology:HP:0002540,MedGen:C0560046|Human_Phenotype_Ontology:HP:0009062,MedGen:C3806604|Human_Phenotype_Ontology:HP:0010841,MedGen:C4021219|Human_Phenotype_Ontology:HP:0011198,MedGen:C4023476|Human_Phenotype_Ontology:HP:0200049,MedGen:C4021898|MeSH:D009190,MedGen:C3463824,OMIM:614286,Orphanet:ORPHA52688|MeSH:D030342,MedGen:C0950123|MedGen:C0008925,Orphanet:ORPHA2014|MedGen:C0393593,Orphanet:ORPHA68363|MedGen:C4310774,OMIM:616973|MedGen:CN517202NaNStrabismus|Nystagmus|Hypothyroidism|Intellectual_disability|Seizures|Muscular_hypotonia|Global_developmental_delay|Failure_to_thrive|Growth_delay|Developmental_regression|Expressive_language_delay|Limb_hypertonia|Inability_to_walk|Infantile_axial_hypotonia|Multifocal_epileptiform_discharges|EEG_with_generalized_epileptiform_discharges|Upper_limb_hypertonia|Myelodysplastic_syndrome|Inborn_genetic_diseases|Cleft_palate|Dystonia|Mental_retardation,_autosomal_dominant_42|not_providedNaNNC_000001.10:g.1737942A>GNaNsingle_nucleotide_variantOMIM_Allelic_Variant:139380.0002|UniProtKB_(protein):P62873#VAR_076648SO:0001583|missense_variant,SO:0001623|5_prime_UTR_variant35NaN1Gmissense_variantMODERATEGNB1TranscriptNM_002074.4protein_coding6/12NaN63223980I/TaTc/aCcNaN-1.0OKdeleteriousprobably_damagingNaNNaNNaNNaNNaN28.1006.061752-1.0
312160305GA0.00000.000000.0000MedGen:C1321551,OMIM:182212,SNOMED_CT:83092002|MedGen:CN517202NaNShprintzen-Goldberg_syndrome|not_providedNaNNC_000001.10:g.2160305G>ANaNsingle_nucleotide_variantOMIM_Allelic_Variant:164780.0004|UniProtKB_(protein):P12755#VAR_071176SO:0001583|missense_variant33NaN0Amissense_variantMODERATESKITranscriptXM_005244775.1protein_coding1/7NaN13210034G/SGgc/AgcNaN1.0NaNNaNNaNNaNNaNNaNNaNNaN22.5003.114491NaN
412160305GT0.00000.000000.0000MedGen:C1321551,OMIM:182212,SNOMED_CT:83092002NaNShprintzen-Goldberg_syndromeNaNNC_000001.10:g.2160305G>TNaNsingle_nucleotide_variantOMIM_Allelic_Variant:164780.0005|UniProtKB_(protein):P12755#VAR_071174SO:0001583|missense_variant33NaN0Tmissense_variantMODERATESKITranscriptXM_005244775.1protein_coding1/7NaN13210034G/CGgc/TgcNaN1.0NaNNaNNaNNaNNaNNaNNaNNaN24.7004.766224-3.0
512160554GC0.00000.000000.0000MedGen:C1321551,OMIM:182212,SNOMED_CT:83092002|MedGen:CN517202NaNShprintzen-Goldberg_syndrome|not_providedNaNNC_000001.10:g.2160554G>CNaNsingle_nucleotide_variantUniProtKB_(protein):P12755#VAR_071183SO:0001583|missense_variant33NaN0Cmissense_variantMODERATESKITranscriptXM_005244775.1protein_coding1/7NaN381349117G/RGgc/CgcNaN1.0NaNNaNNaNNaNNaNNaNNaNNaN23.7004.079099-2.0
613328358TC0.00000.000000.0000MedGen:CN169374NaNnot_specifiedNaNNC_000001.10:g.3328358T>CNaNsingle_nucleotide_variantUniProtKB_(protein):Q9HAZ2#VAR_031433SO:0001583|missense_variant1NaN0Cmissense_variantMODERATEPRDM16TranscriptXM_005244772.1protein_coding9/17NaN18581600534S/PTcg/CcgNaN1.0NaNNaNNaNNaNNaNNaNNaN0.1010.172-0.543433-1.0
713328659CT0.15230.131030.1060MedGen:CN169374NaNnot_specifiedNaNNC_000001.10:g.3328659C>TNaNsingle_nucleotide_variantUniProtKB_(protein):Q9HAZ2#VAR_031434SO:0001583|missense_variant1NaN0Tmissense_variantMODERATEPRDM16TranscriptXM_005244772.1protein_coding9/17NaN21591901634P/LcCt/cTtNaN1.0NaNNaNNaNNaNNaNNaNNaN0.10123.0003.424422-3.0
813347452GA0.00000.003570.0030MedGen:C3809288,OMIM:615373|MedGen:CN169374|MedGen:CN178850NaNLeft_ventricular_noncompaction_8|not_specified|Dilated_cardiomyopathy_1LLNaNNC_000001.10:g.3347452G>ANaNsingle_nucleotide_variantOMIM_Allelic_Variant:605557.0004|UniProtKB_(protein):Q9HAZ2#VAR_070216SO:0001583|missense_variant1NaN1Amissense_variantMODERATEPRDM16TranscriptXM_005244772.1protein_coding15/17NaN356233041102V/MGtg/AtgNaN1.0NaNNaNNaNNaNNaNNaNNaN0.10111.3601.1266291.0
915925304GA0.00450.002310.0058MedGen:C0687120,Orphanet:ORPHA655,SNOMED_CT:204958008|MedGen:CN169374NaNNephronophthisis|not_specifiedNaNNC_000001.10:g.5925304G>ANaNsingle_nucleotide_variantUniProtKB_(protein):O75161#VAR_022546SO:0001583|missense_variant1NaN0Amissense_variantMODERATENPHP4TranscriptNM_015102.3protein_coding27/30NaN394236741225T/MaCg/aTgNaN-1.0NaNdeleteriousbenignNaNNaNNaNNaN0.02122.1002.969650-1.0

Last rows

CHROMPOSREFALTAF_ESPAF_EXACAF_TGPCLNDISDBCLNDISDBINCLCLNDNCLNDNINCLCLNHGVSCLNSIGINCLCLNVCCLNVIMCORIGINSSRCLASSAlleleConsequenceIMPACTSYMBOLFeature_typeFeatureBIOTYPEEXONINTRONcDNA_positionCDS_positionProtein_positionAmino_acidsCodonsDISTANCESTRANDBAM_EDITSIFTPolyPhenMOTIF_NAMEMOTIF_POSHIGH_INF_POSMOTIF_SCORE_CHANGELoFtoolCADD_PHREDCADD_RAWBLOSUM62
65178X154005088CCAAG0.00000.000000.0000MedGen:C0265965,Orphanet:ORPHA1775,SNOMED_CT:74911008|MedGen:CN169374NaNDyskeratosis_congenita|not_specifiedNaNNC_000023.10:g.154005109_154005111dupGAANaNDuplicationNaNNaN1NaN0AAGinframe_insertionMODERATEDKC1TranscriptNM_001363.3protein_coding15/15NaN1701-17021491-1492497-498-/K-/AAGNaN1.0NaNNaNNaNNaNNaNNaNNaNNaN14.5001.716666NaN
65179X154005088CAAGC0.00000.000000.0000MedGen:C0265965,Orphanet:ORPHA1775,SNOMED_CT:74911008|MedGen:CN169374NaNDyskeratosis_congenita|not_specifiedNaNNC_000023.10:g.154005109_154005111delGAANaNDeletionNaNSO:0001624|3_prime_UTR_variant1NaN1-inframe_deletionMODERATEDKC1TranscriptNM_001363.3protein_coding15/15NaN1702-17041492-1494498K/-AAG/-NaN1.0NaNNaNNaNNaNNaNNaNNaNNaN16.3002.014044NaN
65180X154005148GA0.07080.172330.1383MedGen:CN169374NaNnot_specifiedNaNNC_000023.10:g.154005148G>ANaNsingle_nucleotide_variantNaNSO:0001624|3_prime_UTR_variant1NaN0A3_prime_UTR_variantMODIFIERDKC1TranscriptNM_001363.3protein_coding15/15NaN1761NaNNaNNaNNaNNaN1.0NaNNaNNaNNaNNaNNaNNaNNaN6.2550.359695NaN
65181X154065843GA0.01590.006890.0127MedGen:CN169374|MedGen:CN239152NaNnot_specified|Hemophilia_A,_FVIII_DeficiencyNaNNC_000023.10:g.154065843G>ANaNsingle_nucleotide_variantIllumina_Clinical_Services_Laboratory,Illumina:746215SO:0001624|3_prime_UTR_variant1NaN0A3_prime_UTR_variantMODIFIERF8TranscriptNM_000132.3protein_coding26/26NaN7256NaNNaNNaNNaNNaN-1.0OKNaNNaNNaNNaNNaNNaN0.001583.0070.042639NaN
65182X154157565CT0.01530.004730.0140MedGen:CN169374|MedGen:CN239152NaNnot_specified|Hemophilia_A,_FVIII_DeficiencyNaNNC_000023.10:g.154157565C>TNaNsingle_nucleotide_variantIllumina_Clinical_Services_Laboratory,Illumina:741100SO:0001819|synonymous_variant1NaN0Tsynonymous_variantLOWF8TranscriptNM_000132.3protein_coding14/26NaN467145001500PccG/ccANaN-1.0OKNaNNaNNaNNaNNaNNaN0.0015811.4401.142527NaN
65183X154158201TG0.08010.139230.1605MedGen:C0019069,OMIM:306700,SNOMED_CT:28293008|MedGen:CN169374|MedGen:CN239152NaNHereditary_factor_VIII_deficiency_disease|not_specified|Hemophilia_A,_FVIII_DeficiencyNaNNC_000023.10:g.154158201T>GNaNsingle_nucleotide_variantARUP_Laboratories,_Molecular_Genetics_and_Genomics:107962|Illumina_Clinical_Services_Laboratory,Illumina:564263SO:0001819|synonymous_variant1NaN0Gsynonymous_variantLOWF8TranscriptNM_000132.3protein_coding14/26NaN403538641288StcA/tcCNaN-1.0OKNaNNaNNaNNaNNaNNaN0.001580.105-0.630908NaN
65184X154159118CT0.00200.000600.0013MedGen:CN169374|MedGen:CN239152NaNnot_specified|Hemophilia_A,_FVIII_DeficiencyNaNNC_000023.10:g.154159118C>TNaNsingle_nucleotide_variantARUP_Laboratories,_Molecular_Genetics_and_Genomics:149220|Illumina_Clinical_Services_Laboratory,Illumina:582677SO:0001583|missense_variant1NaN1Tmissense_variantMODERATEF8TranscriptNM_000132.3protein_coding14/26NaN31182947983V/IGta/AtaNaN-1.0OKtoleratedbenignNaNNaNNaNNaN0.001580.002-1.7314703.0
65185X154194886CT0.01250.003700.0111MedGen:CN169374|MedGen:CN239152NaNnot_specified|Hemophilia_A,_FVIII_DeficiencyNaNNC_000023.10:g.154194886C>TNaNsingle_nucleotide_variantARUP_Laboratories,_Molecular_Genetics_and_Genomics:153352|Illumina_Clinical_Services_Laboratory,Illumina:746218SO:0001819|synonymous_variant1NaN0Tsynonymous_variantLOWF8TranscriptNM_000132.3protein_coding8/26NaN12571086362AgcG/gcANaN-1.0OKNaNNaNNaNNaNNaNNaN0.0015812.8501.412434NaN
65186X154490187TC0.00030.000340.0000MedGen:C3501611,Orphanet:ORPHA777|MedGen:CN169374NaNNon-syndromic_X-linked_intellectual_disability|not_specifiedNaNNC_000023.10:g.154490187T>CNaNsingle_nucleotide_variantIllumina_Clinical_Services_Laboratory,Illumina:628413SO:0001819|synonymous_variant1NaN0Csynonymous_variantLOWRAB39BTranscriptNM_171998.2protein_coding2/2NaN822543181TacA/acGNaN-1.0NaNNaNNaNNaNNaNNaNNaNNaN0.130-0.592415NaN
65187X154508542GC0.00190.002670.0008MedGen:CN169374|MedGen:CN517202NaNnot_specified|not_providedNaNNC_000023.10:g.154508542G>CNaNsingle_nucleotide_variantNaNSO:0001583|missense_variant1NaN0Cmissense_variantMODERATECLIC2TranscriptXM_005274646.1protein_coding6/7NaN791532178P/ACca/GcaNaN-1.0NaNNaNNaNNaNNaNNaNNaN0.140000.046-0.786513-1.0